ClinVar Miner

Submissions for variant NM_016239.4(MYO15A):c.3196G>C (p.Ala1066Pro)

gnomAD frequency: 0.00073  dbSNP: rs199537186
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756404 SCV000884206 uncertain significance not provided 2017-09-05 criteria provided, single submitter clinical testing The p.Ala1066Pro variant (rs199537186) has not been reported in the medical literature, nor is it listed in ClinVar. This variant is listed in the Genome Aggregation Database (gnomAD) browser with an allele frequency of 0.26% in the African population (identified in 62 out of 23,994 chromosomes; 0 homozygotes). The alanine at codon 1066 is highly conserved considering 11 species up to cow (Alamut software v2.9.0), but computational analyses suggest that this variant does not affect the MYO15A protein structure/function (SIFT: tolerated, PolyPhen2: benign, MutationTaster: polymorphism). However, based on the available information, the clinical significance of the p.Ala1066Pro variant cannot be determined with certainty.
Labcorp Genetics (formerly Invitae), Labcorp RCV000756404 SCV001034051 likely benign not provided 2024-03-29 criteria provided, single submitter clinical testing
National Institute on Deafness and Communication Disorders, National Institutes of Health RCV001328009 SCV001519342 uncertain significance Childhood onset hearing loss 2021-07-08 criteria provided, single submitter research PM3_moderate / Modifications from PMID: 30311386 for classification: The genetic causes of hearing loss have not yet been well characterized in the Yoruba population, and the information regarding variant MAF in this population is still limited, so we did not exclude any variant based on their "high" MAF. PP3 criteria was applied even if the REVEL score was below 0.7, if at least two of the pathogenicity prediction algorithms used predicted that the variant was damaging or likely damaging.
GeneDx RCV000756404 SCV001873886 uncertain significance not provided 2025-02-03 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34837038)

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